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| Gene | FGFR2 |
| Variant | K642R |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | FGFR2 K642R (corresponds to K641R in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). K642R confers a gain of function to the Fgfr2 protein, as demonstrated by increased autophosphorylation, increased phosphorylation of FRS2, and increased activation of Mek1/2 and Stat3, upon FGF1 stimulation, and as compared to wild-type Fgfr2 in cell culture (PMID: 23527311). |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 K642R |
| Transcript | NM_022970.4 |
| gDNA | chr10:g.121488055T>C |
| cDNA | c.1925A>G |
| Protein | p.K642R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_022970.4 | chr10:g.121488055T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121488055T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121488055T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
| NM_022970.3 | chr10:g.121488055T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
| XM_024447889.1 | chr10:g.121485449T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
| XM_017015923 | chr10:g.121485449T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
| XM_024447889.2 | chr10:g.121485449T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
| NM_022970 | chr10:g.121488055T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
| NM_001144913 | chr10:g.121488055T>C | c.1925A>G | p.K642R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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